{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645389395",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1942,
          "referenceAllele": "F",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010484",
      "geneNCBI_id": 6262,
      "geneSymbol": "RYR2",
      "hgvs": [
        "NP_001026.2:p.Phe1942Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA086981",
          "hgvs": "NM_001035.3:c.5824T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA345407162",
          "hgvs": "NM_001035.3:c.5826C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA345407164",
          "hgvs": "NM_001035.3:c.5826C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149448"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=391090[alleleid]",
        "alleleId": 391090,
        "preferredName": "NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/404222",
        "RCV": [
          "RCV001185258",
          "RCV002506090",
          "RCV002356633",
          "RCV004000624",
          "RCV003103770"
        ],
        "variationId": 404222
      }
    ]
  },
  "type": "amino-acid"
}